ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) (rs138908576)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710427 SCV000231848 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000710427 SCV000621185 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing The R4117C variant in the ADGRV1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R4117C variant is observed in 62/18830 (0.47%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The R4117C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R4117C as a variant of uncertain significance.
Athena Diagnostics Inc RCV000710427 SCV000840642 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765851 SCV000897247 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155719 SCV001317174 uncertain significance Usher syndrome, type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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